Bohring-opitz syndrome - A case of a rare genetic disorder
- Author:
Nithiya Visayaragawan
;
Narentharen Selvarajah
;
Hema Apparau
;
Valuyeetham Kamaru Ambu
- Publication Type:Case Report
- Keywords:
Bohring-opitz syndrome;
genetic;
dysmorphism;
gene mutation
- From:
The Medical Journal of Malaysia
2017;72(4):248-249
- CountryMalaysia
- Language:English
-
Abstract:
genetic disorder has haunted clinicians for ages. Our patient
was born at term via caesarean-section with a birth weight of
1.95 kilograms. She had mild laryngomalacia,
gastroesophageal reflux disease and seizures. Physical
signs included microcephaly, hemangioma, low set ears,
cleft palate, micrognatia and the typical BOS posture.
Chromosomal analysis showed 46 xx -Bohring-Opitz
Syndrome overlapped with C- syndrome. Goal-directed
holistic care with integration of parent/carer training was
started very early. She succumbed to a Respiratory-
Syncitial-Virus and Pseudomonas pneumonia complicated
with sepsis at the age of two years and 11 months.
